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Items: 1 to 20 of 15468

1.

rs1491583109 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->AAG,AAGGAAG,AAGGAAGGAAG,AAGGAAGGAAGGAAG [Show Flanks]
    Chromosome:
    17:35530429 (GRCh38)
    17:33857449 (GRCh37)
    Canonical SPDI:
    NC_000017.11:35530429:G:GAAG,NC_000017.11:35530429:G:GAAGGAAG,NC_000017.11:35530429:G:GAAGGAAGGAAG,NC_000017.11:35530429:G:GAAGGAAGGAAGGAAG
    Gene:
    SLFN12L (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    GAAGGAAG=0./0 (ALFA)
    GAA=0.00181/12 (TOMMO)
    GAA=0.01064/2 (NorthernSweden)
    ...more
    HGVS:
    2.

    rs1491556565 [Homo sapiens]
      Variant type:
      INS
      Alleles:
      ->AA,AAA [Show Flanks]
      Chromosome:
      17:35502415 (GRCh38)
      17:33829435 (GRCh37)
      Canonical SPDI:
      NC_000017.11:35502415::AA,NC_000017.11:35502415::AAA
      Gene:
      SLFN12L (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency
      MAF:
      AA=0.00005/2 (GnomAD)
      HGVS:
      3.

      rs1491550207 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->GGAA [Show Flanks]
        Chromosome:
        17:35530443 (GRCh38)
        17:33857463 (GRCh37)
        Canonical SPDI:
        NC_000017.11:35530443:GAA:GAAGGAA
        Gene:
        SLFN12L (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        GAAGGAA=0.00017/2 (ALFA)
        HGVS:
        4.

        rs1491530598 has merged into rs758831720 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          GG>-,G,GGG,GGGG,GGGGG,GGGGGG [Show Flanks]
          Chromosome:
          17:35474697 (GRCh38)
          17:33801716 (GRCh37)
          Canonical SPDI:
          NC_000017.11:35474687:GGGGGGGGGGG:GGGGGGGGG,NC_000017.11:35474687:GGGGGGGGGGG:GGGGGGGGGG,NC_000017.11:35474687:GGGGGGGGGGG:GGGGGGGGGGGG,NC_000017.11:35474687:GGGGGGGGGGG:GGGGGGGGGGGGG,NC_000017.11:35474687:GGGGGGGGGGG:GGGGGGGGGGGGGG,NC_000017.11:35474687:GGGGGGGGGGG:GGGGGGGGGGGGGGG
          Gene:
          SLFN12L (Varview)
          Functional Consequence:
          3_prime_UTR_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          GGGGGGGGGGGGGG=0./0 (ALFA)
          HGVS:
          5.

          rs1491527639 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            ->AGAAAAGAAAAGAAAAGGAAA,AGAAAAGGAAA,AGGAAA [Show Flanks]
            Chromosome:
            17:35530541 (GRCh38)
            17:33857561 (GRCh37)
            Canonical SPDI:
            NC_000017.11:35530541:GAAA:GAAAAGAAAAGAAAAGAAAAGGAAA,NC_000017.11:35530541:GAAA:GAAAAGAAAAGGAAA,NC_000017.11:35530541:GAAA:GAAAAGGAAA
            Gene:
            SLFN12L (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            GAAAAGAAAAGGAAA=0./0 (ALFA)
            GAAAAGAAAAG=0.000004/1 (TOPMED)
            GAAAAG=0.000539/12 (GnomAD)
            ...more
            HGVS:
            6.

            rs1491510310 has merged into rs1298157446 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              TT>-,T,TTT,TTTTTT,TTTTTTT [Show Flanks]
              Chromosome:
              17:35494891 (GRCh38)
              17:33821910 (GRCh37)
              Canonical SPDI:
              NC_000017.11:35494888:TTTT:TT,NC_000017.11:35494888:TTTT:TTT,NC_000017.11:35494888:TTTT:TTTTT,NC_000017.11:35494888:TTTT:TTTTTTTT,NC_000017.11:35494888:TTTT:TTTTTTTTT
              Gene:
              SLFN12L (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              TTTTT=0./0 (ALFA)
              HGVS:
              7.

              rs1491491029 [Homo sapiens]
                Variant type:
                INS
                Alleles:
                ->AA,AAA,AAAGAA,AAAGAAAGAA [Show Flanks]
                Chromosome:
                17:35530434 (GRCh38)
                17:33857454 (GRCh37)
                Canonical SPDI:
                NC_000017.11:35530434::AA,NC_000017.11:35530434::AAA,NC_000017.11:35530434::AAAGAA,NC_000017.11:35530434::AAAGAAAGAA
                Gene:
                SLFN12L (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                AAAGAA=0./0 (ALFA)
                AA=0.00796/60 (TOMMO)
                HGVS:
                8.

                rs1491481763 has merged into rs34262146 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA [Show Flanks]
                  Chromosome:
                  17:35510844 (GRCh38)
                  17:33837863 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:35510833:AAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:35510833:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:35510833:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:35510833:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:35510833:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:35510833:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:35510833:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:35510833:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
                  Gene:
                  SLFN12L (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  AAAAAAAAAAAA=0./0 (ALFA)
                  HGVS:
                  9.

                  rs1491464758 has merged into rs758831720 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    GG>-,G,GGG,GGGG,GGGGG,GGGGGG [Show Flanks]
                    Chromosome:
                    17:35474697 (GRCh38)
                    17:33801716 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:35474687:GGGGGGGGGGG:GGGGGGGGG,NC_000017.11:35474687:GGGGGGGGGGG:GGGGGGGGGG,NC_000017.11:35474687:GGGGGGGGGGG:GGGGGGGGGGGG,NC_000017.11:35474687:GGGGGGGGGGG:GGGGGGGGGGGGG,NC_000017.11:35474687:GGGGGGGGGGG:GGGGGGGGGGGGGG,NC_000017.11:35474687:GGGGGGGGGGG:GGGGGGGGGGGGGGG
                    Gene:
                    SLFN12L (Varview)
                    Functional Consequence:
                    3_prime_UTR_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    GGGGGGGGGGGGGG=0./0 (ALFA)
                    HGVS:
                    10.

                    rs1491450871 [Homo sapiens]
                      Variant type:
                      SNV:
                      Alleles:
                      ->GA
                      Chromosome:
                      no mapping
                      Canonical SPDI:
                      11.

                      rs1491446932 [Homo sapiens]
                        Variant type:
                        SNV:
                        Alleles:
                        GG>-
                        Chromosome:
                        no mapping
                        Canonical SPDI:
                        12.

                        rs1491379047 has merged into rs11323761 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          AAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
                          Chromosome:
                          17:35532451 (GRCh38)
                          17:33859470 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:35532441:AAAAAAAAAAAAAAA:AAAAAAAAA,NC_000017.11:35532441:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:35532441:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:35532441:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:35532441:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:35532441:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:35532441:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:35532441:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:35532441:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
                          Gene:
                          SLFN12L (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          AAAAAAAAAAAA=0./0 (ALFA)
                          A=0.25/10 (GENOME_DK)
                          A=0.3417/341 (GoNL)
                          A=0.4028/2017 (1000Genomes)
                          ...more
                          HGVS:
                          13.

                          rs1491365081 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            ->AGAAGGAA [Show Flanks]
                            Chromosome:
                            17:35476465 (GRCh38)
                            17:33803485 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:35476465:GAAGGAA:GAAGGAAAGAAGGAA
                            Gene:
                            SLFN12L (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            GAAGGAAAGAAGGAA=0.00101/12 (ALFA)
                            HGVS:
                            14.

                            rs1491329735 has merged into rs58553128 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              CACACACACACACACACACACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACA [Show Flanks]
                              Chromosome:
                              17:35495920 (GRCh38)
                              17:33822939 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:35495900:ACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACA,NC_000017.11:35495900:ACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000017.11:35495900:ACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000017.11:35495900:ACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000017.11:35495900:ACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000017.11:35495900:ACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000017.11:35495900:ACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000017.11:35495900:ACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000017.11:35495900:ACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA,NC_000017.11:35495900:ACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA,NC_000017.11:35495900:ACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA,NC_000017.11:35495900:ACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA,NC_000017.11:35495900:ACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA,NC_000017.11:35495900:ACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACA,NC_000017.11:35495900:ACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000017.11:35495900:ACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000017.11:35495900:ACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000017.11:35495900:ACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000017.11:35495900:ACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000017.11:35495900:ACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000017.11:35495900:ACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA
                              Gene:
                              SLFN12L (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              ACACACACACACACACACACA=0./0 (ALFA)
                              ACACAC=0.2282/1143 (1000Genomes)
                              ACACACAC=0.5/20 (GENOME_DK)
                              ...more
                              HGVS:
                              15.

                              rs1491312999 [Homo sapiens]
                                Variant type:
                                DEL
                                Alleles:
                                GG>- [Show Flanks]
                                Chromosome:
                                17:35476465 (GRCh38)
                                17:33803484 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:35476464:GG:
                                Gene:
                                SLFN12L (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency
                                MAF:
                                -=0.00018/12 (GnomAD)
                                HGVS:
                                16.

                                rs1491246466 has merged into rs745926001 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  CACA>-,CA,CACACA,CACACACA [Show Flanks]
                                  Chromosome:
                                  17:35492980 (GRCh38)
                                  17:33819999 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:35492968:ACACACACACACACA:ACACACACACA,NC_000017.11:35492968:ACACACACACACACA:ACACACACACACA,NC_000017.11:35492968:ACACACACACACACA:ACACACACACACACACA,NC_000017.11:35492968:ACACACACACACACA:ACACACACACACACACACA
                                  Gene:
                                  SLFN12L (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  ACACACACACACA=0./0 (ALFA)
                                  AC=0.00006/16 (TOPMED)
                                  -=0.04904/189 (ALSPAC)
                                  AC=0.357715/357 (GoNL)
                                  ...more
                                  HGVS:
                                  17.

                                  rs1491174100 has merged into rs1287774538 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    GG>-,G [Show Flanks]
                                    Chromosome:
                                    17:35530435 (GRCh38)
                                    17:33857454 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:35530433:GGG:G,NC_000017.11:35530433:GGG:GG
                                    Gene:
                                    SLFN12L (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    HGVS:
                                    18.

                                    rs1491159528 [Homo sapiens]
                                      Variant type:
                                      DEL
                                      Alleles:
                                      GG>- [Show Flanks]
                                      Chromosome:
                                      17:35476469 (GRCh38)
                                      17:33803488 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:35476468:GG:
                                      Gene:
                                      SLFN12L (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by cluster
                                      MAF:
                                      -=0.00157/129 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1491148800 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        ->C [Show Flanks]
                                        Chromosome:
                                        17:35495901 (GRCh38)
                                        17:33822921 (GRCh37)
                                        Canonical SPDI:
                                        NC_000017.11:35495901:C:CC
                                        Gene:
                                        SLFN12L (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        CC=0./0 (ALFA)
                                        HGVS:
                                        20.

                                        rs1491137230 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          GA>- [Show Flanks]
                                          Chromosome:
                                          17:35530542 (GRCh38)
                                          17:33857561 (GRCh37)
                                          Canonical SPDI:
                                          NC_000017.11:35530540:AGA:A
                                          Gene:
                                          SLFN12L (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0./0 (ALFA)
                                          -=0.000004/1 (TOPMED)
                                          HGVS:

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